Personal genomics

Personal genomics is the branch of genomics concerned with the sequencing, analysis and interpretation of the genome of an individual. The genotyping stage employs different techniques, including single-nucleotide polymorphism (SNP) analysis chips (typically 0.02% of the genome), or partial or full genome sequencing. Once the genotypes are known, the individual's variations can be compared with the published literature to determine likelihood of trait expression, ancestry inference and disease risk.

Automated high throughput sequencers have increased the speed and reduced the cost of sequencing, making it possible to offer genetic testing to consumers now a days for as little as $1,000. The emerging market of direct-to-consumer genome sequencing services has brought new questions about both the medical efficacy and the ethical dilemmas associated with widespread knowledge of individual genetic information.

Personalized Medicine is a medical method that targets treatment structures and medicinal decisions based on a patient’s predicted response or risk of disease. The National Cancer Institute or NCI, an arm of the National Institutes of Health, lists a patient’s genes, proteins, and environment as the primarily factors analyzed to prevent, diagnose, and treat disease through personalized medicine.

There are various subcategories of the concept of Personalized Medicine such as Predictive Medicine, Precision Medicine and Stratified Medicine. Although these terms are used interchangeably to describe this practice, each carries individual nuances. Predictive Medicine describes the field of medicine that utilizes information, often obtained through personal genomics techniques, to both predict the possibility of disease, and institute preventative measures for a particular individual. Precision Medicine is a term extremely similar to Personalized Medicine in that it focuses on a patient’s genes, environment, and lifestyle, however, is utilized by National Research Council to avoid any confusion or misinterpretations associated with the broader term. Stratified Medicine is a version of Personalized Medicine which focuses on dividing patients into subgroups based on specific responses to treatment, and identifying effective treatments for the particular group.

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